Paralogue Annotation for RYR1 residue 838

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 838
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 838

No paralogue variants have been mapped to residue 838 for RYR1.

RYR1	APCHEAVLPRERLHLEPIKEYRREGPRGPH>L<VGPSRCLSHTDFVPCPVDTVQIVLPPHLER	868
RYR2	APCYEAVLPKEKLKVEHSREYKQERTYTRD>L<LGPTVSLTQAAFTPIPVDTSQIVLPPHLER	880
RYR3	APCYEALLPKEKMRLEPVKEYKRDADGIRD>L<LGTTQFLSQASFIPCPVDTSQVILPPHLEK	867
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L838P	c.2513T>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145